Varaico: Literature-Extracted Genetic Variants

Gene:PANK1
Variant:p.A145D

PANK1

144 papers

RefSeq Summary

This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-...

Pfam Domains

Fumbleaa 101–453UCSCFumble

Gene Aliases

HGNC Name

pantothenate kinase 1

HGNC Alias Symbols

MGC24596; PANK1a; PANK1b

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_148977.3
p.A145D
c.434C>A
Surrounding Variants
1 paper
NM_148977.3
p.T149S
c.445A>T
1 paper
NM_148977.3
p.T149del1
c.445_447delAGT
1 paper
NM_148977.3
p.E131_L140delFs
c.391_418del28
1 paper
NM_148977.3
p.D153A
c.458A>C
2 papers
NM_148977.3
p.D153insFs
c.458dupA
1 paper
NM_148977.3
p.S135insFs
c.405dupC
1 paper
NM_148977.3
p.H155insFs
c.464_465insC
1 paper
NM_148977.3
p.H155insFs
c.465dupC
2 papers
NM_148977.3
p.K134R
c.401A>G
2 papers
NM_148977.3
p.L133Q
c.398T>A
1 paper
NM_148977.3
p.E126_V130delFs
c.376_388del13
1 paper
NM_148977.3
p.E157_T162insFs
c.469_484dup16
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."